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Subscribe to RSSA gene mutation whose discovery was announced Wednesday triples the risk for Alzheimer’s disease. It is a headline that might sound frightening but shouldn’t evoke fear.
The mutation in the gene called TREM2 is rare, occurring in about 1 in 150 people. By comparison one in five people carry a form of a different gene called APO-E that also triples the risk. One in 50 carries a form of APO-E that raises risk 13 times. APO-E’s relation to Alzheimer’s was discovered in 1993. So in terms of public health implications, TREM2 is a small player, and is one of an ever growing list of genes implicated in Alzheimer’s
Still, the research from two teams, one headed by Dr. Kari Stefansson at DeCode Genetics in Iceland and the other by Dr. John Hardy of University College London and both published in the New England Journal of Medicine, is critically important science that may yield clues about the causes of Alzheimer’s disease and the search for better treatments.
TREM2 in its normal form plays a role in inflammation, the body’s response that sends white blood cells to destroy invading germs and diseased tissue. The mutation cuts the ability to mount an inflammatory response, so it ispossible the ability to fight other diseases is tied up with the risk for Alzheimer’s. For more than a century pathologists have noted a buildup of white blood cells in the brains of people who died from Alzheimer’s.
No one is sure what causes Alzheimer’s, which already affects more than 5 million Americans and costs the U.S, economy more than $148 billion a year, according to the Alzheimer’s Association. The numbers are projected to worsen as the baby boomer generation ages. There is no treatment and no cure.
The leading contender as the main cause of Alzheimer’s is the accumulation of plaques of protein called amyloid-beta. It is likely that the inflammatory response is attempting to keep that buildup at bay. Last July, Stefansson’s team discovered a different gene mutation, even more rare, that actually protects against Alzheimer’s. That, too, was important science because that gene is responsible for production of amyloid-beta. So it both supports the hypothesis about the cause and leads to ideas about how to make drugs to stop it.
Stefansson established DeCode in 1996 to find disease-causing genes in Iceland, a country with a homogenous population and national health service with excellent records. At first it was a profit making venture, but despite an impressive record of locating genes associated with several diseases, the company was forced to declare bankruptcy in 2009. It continues as a non-profit enterprise. The two Alzheimer’s genes discovered in the past few months illustrate why the genetic research is so important even though it does not lead to immediate public health benefits or profits.
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Alzheimer’s is a horrible and sad disease. My husband's stepmother was diagnosed 10 years ago and she has now reached the point of forgetting how to swallow. My heart goes out to all that suffer and may they someday soon discover a treatment or cure.
I suspect time is really running out when the swallow goes. If there is coughing it means a little can be going into the lungs which will cause pneumonia.
I don't know about that. My father suffers from pretty severe dementia. He has problems swallowing too and coughs a lot when he is eating. (We are constantly adjusting his diet to minimize the issues.) The swallowing and coughing issues have been going on for several years now. His quality of life stinks - but he is actually otherwise in very good health.
Actually, this is a very common way for Alzheimer's patients to pass away. There's a difference between having difficulty swallowing and actually forgetting how to. Once the patient can no longer swallow, the decision is often to withhold life extending measures (such as a feeding tube), and they eventually dehydrate to the point of death. This is how my mother died.
What Mellissa99 has outlined is a common factor in their death. Doctors often detail it when describing the prognosis. It is a horrible but real pattern.
It is tough to decide the worst disease in which to die from. Alzheimer's is perhaps the worst from the caregiver's perspective. However, I went to my brother's funeral last summer. He died of complications of ALS. I think ALS is worse than Alzheimer's. Live today and tomorrow as though they could be your last, because they could be.
I've known people with ALS who died rather quickly and people who got early onset Alzheimer's that one would WISH they would die but lingered on way too long...
I guess it is all on the person and how the diseases interacts with their body. I've heard Brain cancer is brutal as well as a few other cancers that feel like you are literally being eaten alive from the inside. Anything that screws with your nerves is really going to punish you.
I am hopeful my body and mind will meet their demise at approximately the same time.
Isn't that what most of us hope for?
Why would anyone wish for anything else?
Too bad... all the money and attention goes to developing treatments for victims after the fact instead of seriously looking for the causes and remedying them. Ah, but there's no profit in that.
Well from my read, that's what they are trying to do. Figuring out the sequence of events that lead to it, along with the genetic basis would allow them to predict who will get it and develop a treatment to prevent it. Still plenty of money to be made in that!
It seems to me that they're not going to invest in actual PREVENTION, but TREATMENT - to alleviate symptoms after the fact... There is a huge difference, mostly measured in dollars.
instead of ridiculous conspiracy theories, think about what you're asking. there are several genes that could be the cause, so "prevention" would likely require gene therapy. that in itself is risky and expensive. not to mention then people would argue against it just like they do the flu vaccine. you'd have someone take the "preventative" which, of course, wouldn't be 100% effective, and they would claim the treatment caused the disease and sue. sue sue sue.
stanmrak,
The problem is that prevention is often hard work for the individual.
Kind of like heart disease - lots of exercise and healthy eating over a lifetime helps prevent it. Unfortunately, many people don't like to put forth the effort. It's a lot easier to not worry about eating the double quarter pounder with cheese and take a pill to counteract the cholesterol.
Prevention? To prevent something, you need to know the cause so you can avoid (prevent) it.
My Dad passed away from Alzheimers and it is the worst way to go. I wouldn't wish it on anyone, even enemies. Totally heartbreaking watching one fade away in front of your eyes.
Since the cause isn't known, we don't know how to prevent it. Treating the symptoms is where we are at. It is not the goal.
Even if we did understand how to prevent it, there would likely still be the need for a drug to be taken or a treatment to be given, so this whole profit driven conspiracy BS is just that - BS.
More funding needs to go to non-profits researching cures and deducing causes. I would like to see more grad students working on these problems before they get sucked into our for-profit healthcare system.
Some things in our world need to be done regardless of whether or not there is profit in it, curing diseases and mitigating suffering fall into that category.
That's why it is encouraging to read that the company in the article continues as a non-profit after going bankrupt. Many things are worth doing regardless of profit.
You know that a post doc researcher (nonprofit) makes less than 50K on average. It's pretty sad when medical physicians are paid 3-4x more, but that is the way capitalism works. The point being that researcher's work is just as important... but there's no incentive to go into the field.
Tell me about it. We are losing scientists in this country due to lack of funding. Young researchers need to publish results in order to show enough productivity in a field in order to attract grant money. But they can't do the research in the first place because there is no grant money to support it. Even established scientists are closing their doors and hiring less post docs.
I am in a post doc now and struggle to afford basic supplies. My productivity is hurt as a result. If I can't increase my output I will never see funding again. They will say "sorry, you're not productive enough for us to take a risk funding you." Once you are labeled as unproductive it is the end of your career. It's time to go home and do something else with your life. It's a death spiral for scientific research in this country. On top of that my pay barely covers my rent. I ask my self every day what is the point of pursuing a career as a scientist in a country dead set on starving us into extinction? I would have better luck opening a restaurant.
Some people might be tempted to think that only the best scientists will rise to the challenge - those that do more with less. Perhaps in terms of productivity, but the science itself across an entire field becomes narrowly focused in this environment. The less money there is, the less likely scientists will be willing to pursue new ideas. New ideas may result in dead ends that don't pan out, but they also result in breakthroughs. Right now the Alzheimer's field is narrowly focused on the Abeta cascade as causative to the disease. Unfortunately, drugs to clear Abeta don't stop the disease. Clearly there is more to the story and this TREM2 mutation points to that, but for the most part all research keeps coming back to and is viewed in terms of the Abeta cascade. Progress is therefore incremental.
It is somewhat ironic that some cynics suggest that scientists publish conclusions just to get money, which biases results. In reality scientists are only studying certain topics considered "safe" and fundable. Cynics suggest that we should decrease funding to science because of bias, when that actually would make the problem much worse. If we want a wide base of ideas we need more funding not less.
I was part of the generation of kids that benefited from Kennedy's science push (one of the last I think). We need a new public official to push that hard again, maybe not for space, but something, anything. I shudder every time I hear some person running for public office that advocates getting rid of the Department of Education or even just de-funding PBS, why would they want to undermine what little is left of our education system? Are we all expected to work in the service industry?
I just don't understand, science always leads to some sort of innovation, and for those that only care about money, innovation always makes someone money.
Just raise my taxes, make public schools better, create public higher learning schools, and make the world a better place. Saving money at the cost of our future is stupid.
We already have a litmus test to know when a science push has worked, things like that "honey booboo" and Jersey Shore will be replaced by "Nova Science Now" and "Bang goes the Theory". Oh well, I can dream, can't I?
Keep up the good work radagast, we are all counting on you, even if it looks like most don't support you.
Its people like antelope4560 that constantly retard much needed genetic research.
So is finding a cure for Alzheimers going to be like finding a cure for cancer in terms of they REALLY don't want to find a cure. If a cure is found, the Alzheimers organizations, the telethons, the money raising benefits, etc will all stop and cease, putting millions and millions of people out of work.
Millions and millions? Maybe hundreds, perhaps a thousand, and hopefully many of those folks will move on to the next important cause.
Troy, that is dumb - and insulting. First of all, cancer is not a disease, it is a category of dozens of different diseases. Many of these are actually curable thanks to the work of cancer researchers. Cures exist despite cynical people like yourself believing they do not. There is also tremendous work being done to prevent cancer - you know all those ridiculous rules about not smoking, and banning trans fats, food additives, and other chemicals, what do you think that's about? There are plenty of people invested in reducing the number of people who get cancer without them making a dime from it.
Alzheimer's is not curable in the sense that cancer is curable, or for that matter diseases like the flu. Alzheimer's is the death of neurons. The best we can do once it is diagnosed is treat the symptoms, because there is no way to regrow neurons and restore the wiring complete with a lifetime's worth of memories and synaptic regulation to make someone whole again. Plus we still don't know what causes the majority of the cases. Sure there are a small percentage of people who carry alleles that increase their risk, but the majority of cases are sporadic without any genetic abnormalities. The cause of the disease may even be multi-factorial. There may be many ways to damage the intricate systems of the brain that would result in what we call Alzheimer's. A cure is not around the corner. Earlier detection that will lead to better treatment and a higher quality of life is around the corner, but not a cure.
Some things are not purely the result of greed. But you wouldn't know that because you never lifted a finger to do any of the work or lend a hand, have you? You just rely on being cynical because it is easier for you to blame someone.
The way I read these numbers quoted in the article, 1/50 carry a gene that increases the odds of Alz by 13 times. 1/5 people carry a gene that triples the odds So that means 1/55 people are likely to have both genes or 16 times more likely to have the disease. If you add this new gene to the statistics, you add another risk factor of 3X for a total probability that at least 1 in 155 people will have 19 times the risk of Alz.
That's purely statistical speculation though, I don't know if this articles numbers are accurate and I don't know if it's biologically possible to have all 3 of these genes at the same time. But it is great science that will hopefully lead to a cure some day.
@johnbarker - two of the genes discussed in the article are variants of APO-E; you couldn't have both expressing at the same time (due to genetic masking), even if you happened to have both variants.
Also, statistics isn't additive, its multiplicative. The chance of having TREM2 is 1/150, the chance of having one of the APO-E variants discussed is 1/50, so the chance of having both is 1/7500. As you point out though, that would dramatically increase the risk of Alzheimers.
That's oversimplification of course, but gives a ball park estimation, the actual odds are lot more complicated than that.
But if they can spot these combinations of genes in people, they may be able to use gene therapy to reduce the risk some day.
Teneb, yes, you're right on the random dice throw statistics. Not sure what I was thinking, haha. You obviously know more about genes than I do too.
My mother lived with me and I cared for her the last seven years of her life. She had alzheimer's. It was a time of great joy and great sorrow. She had other ailments too. I was left completely devoid of energy and had little interior strength left when she died because the caregiving is intense and endless. I would not trade those 7 years for anything in the world. The disease is relentless and I strove only to allow her to feel peaceful and content in the "special" world she lived in. I entered into her world verbally, when she spoke and made no obvious sense, I replied in kind as best as I could, and made no sense either! The special challenges came when the disease took away her mind's ability to walk and then bend her legs at all. Up to the last days of her life, her favorite activity was to get in the car (what a challenge that became!) drive to Dunkin' Donuts, have a hot coffee and some donut holes while we sat in the car and I fed her. My advice to caregiver's of loved ones who have this disease: simple, simple, simple....keep it as simple as possible!
Bless you for your loving care. I myself could not have given that same quality of devotion.
Hello World! My dad is a patient of Alzheimer since last 7 years. I'm the only caregiver to him. My innermost UN-conditional love for my dad had let me discover many better ways to provide daycare to such patients and I'm going to put all of them in a book, that will be out in market very soon (both ebook and paper-back editions) and the best of all it will be completely FREE of any charges. Please mail me your email id. with subject line "Request for - The Mind Robber" if anyone is in need of it. Thanks to all caregivers. My email id is - inethub at gmail dot com
Both my parents had Alzheimer's, my mother suffered from Early onset at the age of 45 and passed away at 67 by forgetting how to breath. My father took care of her and suffered from the disease the last few years of my mothers life. Below is the Eulogy I gave at my fathers funeral. I hope it gives caregivers peace.
My sister and I witnessed a true love story between a husband and wife. When my mom began to slip away into the darkness my dad never left her side. He bathed her: put her make up on and even put those big Velcro rollers in her hair. Then when she moved to the nursing home my dad went every day to feed, walk her and sometimes lay in bed with her until she would fall asleep. I heard people tell me that was just your dads generation. You know what I say, he did it out of selfless love. God was with our family the entire journey , he never punished us, but rather making us dependent on him.
1 Corinthians 10:13
no test or temptation that comes your way is beyond the course of what others have had to face. All you need to remember is that God will never let you down : he'll never let you be pushed past your limits he'll always be there to help you come thought it.
Our families journey was never about Alzheimer's its was about getting to know God and all the wonderful things he has taught our family, God left us the best gift: he left my mothers love in our hearts. As my sister and I enter into another journey with my father, we promise, with Gods guidance we will take care of dad as he took care of you mom.
As I reflect back on both my parents its hard to believe that between both of them they been sick for over 25 years That over half my sister and lives that they been ill. During my dads journey, I often wonder why bad things happen to good people and why my father journey was so tough but God had a plan for my dads life. My dad was never alone, even in the darkest nights it will always lead to dawn. Today is my father dawn. He is reunited with my mom in heaven to he continue their love story . God made my Dad with a purpose and a plan. He saw every day my father endured before my dad even lived one of them. God had placed over my dad and us the covering of his protective love. God never allowed nothing to come into our families life that has not first been screened though that love, God hand has remained on our family to this very day.
Now its time for us to let you go
The hardest thing we had to do
But before we do,
We want you to know we love you very much dad and know today your suffering on earth has ended.
In the end good things will be rewarded, pain will be forgotten and light will shatter all darkness.
Today my sister and I are in the exact place God wants us to be.